Haemophilia B

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Haemophilia B
Synonyms	Christmas disease, Factor IX deficiency
Pronounce
Specialty	Hematology
Symptoms	Prolonged bleeding, easy bruising, joint pain
Complications	Hemarthrosis, intracranial hemorrhage, anemia
Onset	Childhood
Duration	Lifelong
Types
Causes	Genetic mutation in the F9 gene
Risks	Family history
Diagnosis	Blood test for Factor IX activity
Differential diagnosis	Haemophilia A, von Willebrand disease
Prevention	Genetic counseling
Treatment	Factor IX replacement therapy, desmopressin
Medication
Prognosis	Normal life expectancy with treatment
Frequency	1 in 25,000 male births
Deaths

Human male karyotype - X chromosome

Coagulation cascade

Protein structure related to Haemophilia B

Haemophilia B is a blood disorder that prevents blood from clotting properly. This is a rare genetic disorder that is usually inherited. It is caused by a deficiency of Factor IX, a clotting protein.

Symptoms

The symptoms of Haemophilia B can vary greatly, depending on the severity of the disorder. Some of the most common symptoms include:

• Bleeding that is difficult to stop, even from minor wounds
• Frequent and unexplained nosebleeds
• Blood in the urine or stool
• Unusual bruising
• Joint pain and swelling

Causes

Haemophilia B is caused by a mutation in the F9 gene, which is responsible for producing Factor IX. This mutation can be inherited from a parent, or it can occur spontaneously.

Diagnosis

Diagnosis of Haemophilia B is usually made through a blood test that measures the level of Factor IX in the blood. Other tests may be used to rule out other conditions that can cause similar symptoms.

Treatment

Treatment for Haemophilia B typically involves replacing the missing Factor IX through infusions of a clotting factor concentrate. Other treatments may include medications to prevent blood clots, and physical therapy to manage joint damage.

See also

• Haemophilia A
• Blood clot
• Genetic disorder

References

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